ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829977033
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50078
ClinVar RCV Id:
RCV000043344
RCV000612238
RCV001087230
RCV002255269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala862Val
CA017697
NM_021055.3:c.2585C>T